Syndrome |
Genetic Association |
Related Congenital Heart Disease |
|---|
Down’s syndrome |
Trisomy chromosome 21 |
- Atrioventricular septal defect (35%)
- Ventricular septal defect ± other lesions (8%)
- Patent ductus arteriosus (7%)
- Tetralogy of Fallot (4%)
- Some studies suggest adults with Down’s syndrome have increased risk of mitral and aortic valve disease, like mitral valve prolapse and aortic insufficiency
|
Trisomy 18 |
Trisomy chromosome 18 |
- Congenital heart disease in >50%
- Most commonly ventricular septal defect and patent ductus arteriosus
|
- DiGeorge syndrome
- Velocardiofacial syndrome
|
Deletion in chromosome 22q11 |
- Congenital heart disease in approximately 75%
- Tetralogy of Fallot
- Interrupted aortic arch
- Other conotruncal abnormalities
- Ventricular septal defect
|
Williams-Beuren syndrome |
Deletion in chromosome 7q11.23, resulting in involving elastin |
- Supravalvar aortic stenosis
- Supravalvar pulmonic stenosis
- Stenosis of peripheral vessels, such as renal arteries
|
Turner syndrome |
45, X |
- Left-sided heart disease
- Coarctation of the aorta (10%)
- Aortic valve disease—stenosis, insufficiency, bicuspid aortic valve (18%)
|
Marfan syndrome |
FBN1 mutation causing abnormalities in fibrillin-1 |
- Aortic root dilation
- Mitral valve prolapse
|
Holt-Oram syndrome |
Related to TBX5 gene |
- Atrial septal defect
- Ventricular septal defect
- Tetralogy of Fallot
|
Noonan syndrome |
PTPN11 mutation in 50% |
- Valvar pulmonic stenosis
- Hypertrophic cardiomyopathy
|
VACTERL Association |
- Atrial septal defect
- Ventricular septal defect
|
CHARGE Association |
- Conotruncal abnormalities—Tetralogy of Fallot, Truncus arteriosus
- Aortic arch abnormalities—Interrupted aortic arch, vascular rings
|
CHARGE, Coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormality; VACTERL, Vertebral anomaly, imperforate anus, cardiac abnormality, tracheoesophageal fistula, renal abnormalities, limb abnormalities. |
